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Crybb2 Gene Detail
Summary
  • Symbol
    Crybb2
  • Name
    crystallin, beta B2
  • Synonyms
    Aey2, betaB2-crystallin, Cryb-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88519
    NCBI Gene: 12961
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:113206124-113217983 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 55.38 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    435 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88519
 protein coding gene Chr5:113206124-113217983 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029912
 protein coding gene Chr5:115689033-115700747 (-)
A/J MGP_AJ_G0029878
 protein coding gene Chr5:111181002-111192230 (-)
AKR/J MGP_AKRJ_G0029816
 protein coding gene Chr5:114706569-114720212 (-)
BALB/cJ MGP_BALBcJ_G0029889
 protein coding gene Chr5:112541538-112553799 (-)
C3H/HeJ MGP_C3HHeJ_G0029609
 protein coding gene Chr5:115137123-115151353 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030342
 protein coding gene Chr5:120187474-120200816 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027571
 protein coding gene Chr5:105995716-106007148 (-)
CAST/EiJ MGP_CASTEiJ_G0029017
 protein coding gene Chr5:114067361-114078810 (-)
CBA/J MGP_CBAJ_G0029576
 protein coding gene Chr5:124730802-124745012 (-)
DBA/2J MGP_DBA2J_G0029726
 protein coding gene Chr5:111247217-111258929 (-)
FVB/NJ MGP_FVBNJ_G0029683
 protein coding gene Chr5:109985656-109997757 (-)
LP/J MGP_LPJ_G0029814
 protein coding gene Chr5:116252924-116265321 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029714
 protein coding gene Chr5:129253497-129267401 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030383
 protein coding gene Chr5:114143819-114155049 (-)
PWK/PhJ MGP_PWKPhJ_G0028731
 protein coding gene Chr5:109863133-109874677 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028569
 protein coding gene Chr5:111650210-111664028 (-)
WSB/EiJ MGP_WSBEiJ_G0029093
 protein coding gene Chr5:114666680-114679413 (-)



Homology
more
  • Human Ortholog
    CRYBB2, crystallin beta B2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CRYBB2, crystallin beta B2
  • Synonyms
    CCA2, CRYB2, CRYB2A, CTRCT3, D22S665
  • Links
    NCBI Gene ID: 1415
    neXtProt AC: NX_P43320
    UniProt: P43320

  • Chr Location
    22q11.23; chr22:25211661-25231870 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Crybb2 mouse models; 2 with human CRYBB2 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 5 alleles in 5 genetic backgrounds
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this gene typically lead to progressive cataract formation. Mice homozygous for a null allele exhibit reduced female fertility, impaired ovarian folliculogenesis, abnormal superovulation, altered proliferation and apoptosis of granulosa cells, and dysregulated sex hormone production.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    8
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    776
  • Tissues
    18
  • cDNA Data
    9
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12961 NCBI Gene Model | MGI Sequence Detail 11860 C57BL/6J ±  kb
    transcript NM_007773 RefSeq | MGI Sequence Detail 916 ZRU/MplStud  
    polypeptide P62696 UniProt | EBI | MGI Sequence Detail 205 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 1
      cDNA 10
      Primer pair 3
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13292, MGD-MRK-2166, MGD-MRK-2168, MGI:97574
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 11
      Diseases 3
      Gene Ontology 6
      Phenotypes 24
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:339482 Schmid PWN, et al., Imbalances in the eye lens proteome are linked to cataract formation. Nat Struct Mol Biol. 2021 Feb;28(2):143-151
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory